ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) (rs780360360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720435 SCV000851312 uncertain significance History of neurodevelopmental disorder 2016-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764285 SCV000895304 uncertain significance Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587898 SCV000697768 uncertain significance not provided 2016-01-18 criteria provided, single submitter clinical testing

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